Mandibulo-facial dysostosis-microcephaly syndrome

The mandibulo-facial dysostosis-microcephaly syndrome manifests already at early age and involves symptoms such as mandibulo-facial dysostosis, microcephaly, short stature, mental retardation and pronounced delayed language acquisition.

In addition, the patients suffer from malformations of the auricles, the ear canal, the middle ear and thus also frequently deafness. Other typical malformations include a prominent glabella, a broad bridge of the nose, a bulbous tip of the nose, and an inverted lower lip.

Often, congenital heart disease, esophageal atresia, and malformations of the thumb are among the symptoms.

So far, the syndrome has been described in only four cases, its cause is still unknown.

Mandibulo-facial dysostosis-microcephaly syndrome is already manifesting in the age of dress, and involves symptoms of mandibulo-facial dysostosis, microcephaly, short stature, mental retardation, and heavily delayed language acquisition. The patients additionally suffer from malformations of the ears, of the pas- sage, of the middle ear and thus often of heaviness. Other typical malformations include a prominent glabella, a broad nasal bridge, a bulbous nasal tip, and a reversed lower lip.
Concomitant cardiac arrest, esophageal atresia, and malformations of the thumbs to the symptoms also commonly accompany. & Nbsp;

So far, the syndrome has been described in only four cases, its cause is still unknown.